Canonical Allele Identifier: CA431148991

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215845345C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980621C>A , CM000664.2:g.214980621C>A	GRCh38
NC_000002.11:g.215845345C>A , CM000664.1:g.215845345C>A	GRCh37
NC_000002.10:g.215553590C>A	NCBI36
NG_007074.1:g.162807G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4602G>T MANE Select	ENSP00000272895.7:p.Thr1534=
ENST00000272895.11:c.4602G>T	ENSP00000272895.7:p.Thr1534=
ENST00000389661.4:c.3648G>T	ENSP00000374312.4:p.Thr1216=
NM_015657.3:c.3648G>T	NP_056472.2:p.Thr1216=
NM_173076.2:c.4602G>T	NP_775099.2:p.Thr1534=
NR_103740.1:n.4902G>T
XM_011510951.1:c.4611G>T	XP_011509253.1:p.Thr1537=
XM_011510952.1:c.4611G>T	XP_011509254.1:p.Thr1537=
XM_011510951.2:c.4611G>T	XP_011509253.1:p.Thr1537=
NM_173076.3:c.4602G>T MANE Select	NP_775099.2:p.Thr1534=
NR_103740.2:n.5100G>T
NM_015657.4:c.3648G>T	NP_056472.2:p.Thr1216=